GenomicsHuman MutationPeer-reviewed
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge
Lipika R. Pal, Kunal Kundu, Yizhou Yin, John Moult
The paper identifies potential causative variants in rare genetic disorders using a gene-centric approach and phenotype-weighted scoring, achieving partial success in matching genomes to clinical profiles.
6 citations